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rs80359285

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;AG) 6 BRCA2 variant considered pathogenic for breast cancer
(AG;AG) 0 common in clinvar


Make rs80359285(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32332974
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359285
ebirs80359285
HLIrs80359285
Exacrs80359285
Varsomers80359285
Maprs80359285
PheGenIrs80359285
hapmaprs80359285
1000 genomesrs80359285
hgdprs80359285
ensemblrs80359285
gopubmedrs80359285
geneviewrs80359285
scholarrs80359285
googlers80359285
pharmgkbrs80359285
gwascentralrs80359285
openSNPrs80359285
23andMers80359285
23andMe allrs80359285
SNP Nexus

SNPshotrs80359285
SNPdbers80359285
MSV3drs80359285
GWAS Ctlgrs80359285
Max Magnitude6
rs80359285, also known as 1724delAG, c.1496_1497delAG and p.Gln499Argfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359285(;)
Alt rs80359285(;)
Reference rs80359285(AG;AG)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32907111_32907112delAG
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000043817.2, RCV000112927.1, RCV000162911.1,